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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619243
http://purl.bioontology.org/ontology/OMIM/619243
|
|---|---|
| Preferred Name | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES |
| Synonyms |
GDSBA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | GDSBA
|
|---|---|
| prefLabel | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES
|
| Gene Symbol |
GDSBA
KIAA1093
TNRC6B
|
| Scope Statement | Caused by mutation in the trinucleotide repeat-containing gene 6B (TNRC6B, 610740.0001) [MOLECULAR BASIS]
Onset in infancy or early childhood [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Variable expressivity [MISCELLANEOUS]
De novo mutation (in most patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 22q13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619243
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5543226
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |